Bilateral frontal polymicrogyria
Definition[edit | edit source]
Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus.
Types[edit | edit source]
Some researchers classify the condition into two different forms: bilateral frontal polymicrogyria and the bilateral frontoparietal.
Cause[edit | edit source]
The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known.
Signs and symptoms[edit | edit source]
Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures may also be present.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Delayed speech and language development(Deficiency of speech development)
- Global developmental delay
30%-79% of people have these symptoms
- Intellectual disability, mild(Mental retardation, borderline-mild)
- Spastic tetraparesis
5%-29% of people have these symptoms
- EEG abnormality
Diagnosis[edit | edit source]
- The diagnosis of PMG is typically made by MRI since computed tomography (CT) and other imaging methods do not have high enough resolution or adequate contrast to identify the small folds that define PMG.[1][1].
- In 5% of cases, PMG is detected on prenatal ultrasound examination by the presence of abnormalities – usually microcephaly and/or associated brain malformations.
Treatment[edit | edit source]
Treatment is based on the signs and symptoms present in each person.
References[edit | edit source]
- ↑ Stutterd CA, Dobyns WB, Jansen A, et al. Polymicrogyria Overview. 2005 Apr 18 [Updated 2018 Aug 16]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1329/
NIH genetic and rare disease info[edit source]
Bilateral frontal polymicrogyria is a rare disease.
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